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Renal Cancer Susceptibility and Pharmacogenomics

Individual responses to standard drug doses are highly variable in part due to genetic variants. An increasing number of genetic polymorphisms is found in genes encoding drug metabolizing enzymes, drug transporters and targets, which have been related to drug effects in humans. However differences in expression and function of enzymes and transporters can not only be explained by genetic variants. Epigenetic modifications such as DNA methylation, histone modifications and moreover microRNAs may explain interindividual variability in drug response apart from genetic polymorphisms. It has been shown that many genes including some drug metabolizing enzymes, drug transporters and transcription factors are under epigenetic control. The objective of our work is therefore to identify genetic and epigenetic determinants contributing to expression and function of drug metabolizing enzymes and drug transporters. We are thus interested in applying novel methods, e.g. MALDI-TOF mass spectrometry, TaqMan or microarray technology in our research projects. Major clinical topics related to pharmacogenomics of genes involved in the Absorption, Distribution, Metabolism and Excretion (ADME) of drugs are currently immunosuppressive and cancer therapy in different patient cohorts.
Major Projects
  • Pharmacogenomics of drug transporters and drug metabolizing enzymes
  • Pharmacoepigenetics of drug transporters
  • Pharmacogenomics of immunosuppressive/cancer therapy
  • Analytical methods in genomic research (e.g. MALDI-TOF mass spectrometry)
Dr. Elke Schaeffeler

phone: ++49-711-8101 3729

Selected References
  • Schaeffeler E, Fischer C, Brockmeier D, Wernet D, Moerike K, Eichelbaum M, Zanger UM, Schwab M. Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants. Pharmacogenetics. 2004; 14:407-417
  • Hauser IA, Schaeffeler E, Gauer S, Scheuermann E-H, Wegner B, Gossmann J, Ackermann H, Seidl C, Hocher B, Zanger UM, Geiger H, Eichelbaum M, Schwab M. ABCB1 genotype of the donor but not of the recipient is a major risk factor for cyclosporine related nephrotoxicity after renal transplantation. J Am Soc Nephrol. 2005; 16:1501-1511
  • Stanulla M, Schaeffeler E, Flohr T, Cario G, Schrauder A, Welte K, Ludwig W-D, Bartram CR, Zanger UM, Eichelbaum M, Schrappe M, Schwab M. Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia. JAMA. 2005; 293:1485-9
  • Schaeffeler E, Eichelbaum M, Reinisch W, Zanger UM, Schwab M. Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) – association with decreased enzyme function. Hum Mutat. 2006;27:976.
  • Schwab M, Zanger UM, Marx C, Schaeffeler E, Klein K, Dippon J, Kerb R, Blievernicht J, Fischer J, Hofmann U, Bokemeyer C, Eichelbaum M; German 5-FU Toxicity Study Group. Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group. J Clin Oncol. 2008;26:2131-8.
  • Geisler T, Schaeffeler E, Dippon J, Winter S, Buse V, Bischofs C, Zuern C, Moerike K, Gawaz M, Schwab M. CYP2C19 and nongenetic factors predict poor responsiveness to clopidogrel loading dose after coronary stent implantation. Pharmacogenomics. 2008;9:1251-9
  • Schaeffeler E, Zanger UM, Eichelbaum M, Asante-Poku S, Shin JG, Schwab M. Highly multiplexed genotyping of thiopurine S-methyltransferase variants using MALDI-TOF mass spectrometry: reliable genotyping in different ethnic groups. Clin Chem. 2008;54:1637-47
  • Stanulla M, Schaeffeler E, Möricke A, Coulthard SA, Cario G, Schrauder A, Kaatsch P, Dördelmann M, Welte K, Zimmermann M, Reiter A, Eichelbaum M, Riehm H, Schrappe M, Schwab M. Thiopurine methyltransferase genetics is not a major risk factor for secondary malignant neoplasms after treatment of childhood acute lymphoblastic leukemia on Berlin-Frankfurt-Münster protocols. Blood. 2009;114:1314-8.
  • Nies AT, Koepsell H, Winter S, Burk O, Klein K, Kerb R, Zanger UM, Keppler D, Schwab M, Schaeffeler E. Expression of organic cation transporters OCT1 (SLC22A1) and OCT3 (SLC22A3) is affected by genetic factors and cholestasis in human liver. Hepatology. 2009;50:1227-40

Curriculum Vitae Elke Schaeffeler, PhD

Head of Molecular Diagnostics

Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology
Auerbachstrasse 112
70376 Stuttgart Germany
phone: ++49-711-8101 3729
fax: ++49-711-859295
Education and Professional Career
1989-1995 Study of Chemistry at the University of Stuttgart, Germany
1995 Diploma in Chemistry
1996-1999 PhD thesis at the Institute of Biochemistry, University of Stuttgart, Germany
Jun 1996-Dec 1998 Doctoral dissertation grant (Landesgraduiertenförderung des Landes Baden-Württemberg)
1999 Dr.rer.nat. (PhD), University of Stuttgart, Germany
1999-2005 Research Scientist at the Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart
2005 Galenus von Pergamon Award
Since 2005 Senior Research Scientist at the Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart
Since 2007 Head of Molecular Diagnostics at the Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart